A Case of Incontinentia Pigmenti with Developmental Brain Malformation.
- Author:
Suk Ho KANG
1
;
Soon KIM
;
Seung Hee JUNG
;
Sang Geel LEE
Author Information
1. Department of Pediatrics, Fatima Hospital, Taegu, Korea. sgleeped@korea.com
- Publication Type:Case Report
- Keywords:
Incontinentia pigmenti;
Neonatal seizure;
Encephalopathy
- MeSH:
Brain*;
Central Nervous System;
Communicable Diseases;
Diagnosis;
Female;
Generalization (Psychology);
Humans;
Incontinentia Pigmenti*;
Infant;
Infant, Newborn;
Magnetic Resonance Imaging;
Neurocutaneous Syndromes;
Seizures;
Skin;
Skin Diseases, Vesiculobullous
- From:Journal of the Korean Pediatric Society
2002;45(4):535-539
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Incontinentia pigmenti is a rare neurocutaneous syndrome characterized by vesiculobullous skin disease in neonates and infants, a noninfectious disease that should be distinguished from infectious diseases with the neonatal seizure or encephalopathy. This disease is X-linked dominant with Xq28 region abnormalities and often associated with developmental defects of the ocular, skeletal, dental, and central nervous system. Central nervous system involvement in the neonatal period, or complicated by encephalopathy, may cause severe neurologic impairment, retardation or even death. We experienced a case of incontinentia pigmenti in a three-day-old female patient who had characteristic papulovesicular skin lesions and partial seizures with secondary generalization. Histopathological examination favored the diagnosis of incontinentia pigmenti and a brain MRI showed undifferentiated white matters with periventricular nodular lesions.
